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517 results on '"Pettersson C"'

17. P.03 Myosin dysregulation in nemaline myopathy

Author

Laitila, J., Ranu, N., Mariano, J., Wallgren-Pettersson, C., Witting, N., Vissing, J., Vilchez, J., Fiorillo, C., Zanoteli, E., Auranen, M., Jokela, M., Beck, T., Larsen, S., Kontrogianni-Konstantopoulos, A., and Ochala, J.

Published
2022
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23. Feeling controlled or being in control? Apps for self-management among older people with neurological disability.

Author

Winberg, C., Kylberg, M., Pettersson, C., Harnett, T., Hedvall, P.-O., Mattsson, T., and Månsson Lexell, E.

Subjects
MULTIPLE sclerosis, NEUROLOGICAL disorders, FOCUS groups, SELF-management (Psychology), MOBILE apps, QUALITATIVE research, PARKINSON'S disease, STROKE rehabilitation, HEALTH behavior, COMMUNICATION, RESEARCH funding, PEOPLE with disabilities, THEMATIC analysis, PATIENT-professional relations, BEHAVIOR modification
Abstract

The aim of this paper was to describe how people living with a neurological disability such as multiple sclerosis, Parkinson's disease and stroke reason regarding using apps to facilitate self-management in everyday life. A qualitative research approach with a focus group methodology was used. The sample comprised 16 participants, 11 men and 5 women, with an average age of 64 years (ranging from 51–80 years). Six participants were diagnosed with multiple sclerosis, six with Parkinson's disease and four with stroke. Data were analyzed using thematic analysis, which is a method for identifying, analyzing and reporting patterns. The results formed two themes. The first theme "using apps to have control of my health" comprises two subthemes; "monitor and take responsibility for a healthy lifestyle" and "compensate to facilitate everyday life". The second theme "using the app as a tool and means for communication" also comprised two subthemes; "dare to trust the app" and "feeling safe when sharing information with health care professionals". The use of apps put increased responsibility on the person and had the possibility to make them more involved in their own care. The use of an app can facilitate a healthy lifestyle and help to monitor disease-specific symptoms. In order to be able to use apps for communication with the health care sector legislation and safety issues need to be considered. Apps can be used for self-management if they are safe and can be trusted. People with neurological disabilities want to be involved in their healthcare and needs to be addressed by health care professionals. The use of apps grasp over a wide variety of areas this is something that may be considered in health care and something that can be addressed by interdisciplinary approaches. Ordinary health-oriented apps and disease-specific apps were used differently and for different purposes. [ABSTRACT FROM AUTHOR]

Published
2021
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24. SLC35A2-related congenital disorder of glycosylation: Defining the phenotype

Author

Yates, T.M., Suri, M., Desurkar, A., Lesca, G., Wallgren-Pettersson, C., Hammer, T.B., Raghavan, A., Poulat, A.-L., Møller, R.S., Thuresson, A.-C., and Balasubramanian, M.

Abstract

We aim to further delineate the phenotype associated with pathogenic variants in the SLC35A2 gene, and review all published literature to-date. This gene is located on the X chromosome and encodes a UDP-galactose transporter. Pathogenic variants in SLC35A2 cause a congenital disorder of glycosylation. The condition is rare, and less than twenty patients have been reported to-date. The phenotype is complex and has not been fully defined. Here, we present a series of five patients with de novo pathogenic variants in SLC35A2. The patients' phenotype includes developmental and epileptic encephalopathy with hypsarrhythmia, facial dysmorphism, severe intellectual disability, skeletal abnormalities, congenital cardiac disease and cortical visual impairment. Developmental and epileptic encephalopathy with hypsarrhythmia is present in most patients with SLC35A2 variants, and is drug-resistant in the majority of cases. Adrenocorticotropic hormone therapy may achieve partial or complete remission of seizures, but the effect is usually temporary. Isoelectric focusing of transferrins may be normal after infancy, therefore a congenital disorder of glycosylation should still be considered as a diagnosis in the presence of a suggestive phenotype. We also provide evidence that cortical visual impairment is part of the phenotypic spectrum.

Published
2018

30. Mutation-Specific Effects on Thin Filament Length in Thin Filament Myopathy

Author

Winter, J.M., Joureau, B., Lee, E.J., Kiss, B., Yuen, M., Gupta, V.A., Pappas, C.T., Gregorio, C.C., Stienen, G.J., Edvardson, S., Wallgren-Pettersson, C., Lehtokari, V.L., Pelin, K., Malfatti, E., Romero, N.B., Engelen, B.G.M. van, Voermans, N.C., Donkervoort, S., Bonnemann, C.G., Clarke, N.F., Beggs, A.H., Granzier, H., Ottenheijm, C.A., Physiology, and ICaR - Heartfailure and pulmonary arterial hypertension

Subjects
Mice, Knockout, Sarcomeres, genetic structures, Muscle Proteins, macromolecular substances, Disorders of movement Donders Center for Medical Neuroscience [Radboudumc 3], Actins, Article, Muscular Diseases, Case-Control Studies, Mutation, Animals, Humans, Muscle, Skeletal, Cytoskeleton, Muscle Contraction
Abstract

Item does not contain fulltext OBJECTIVE: Thin filament myopathies are among the most common nondystrophic congenital muscular disorders, and are caused by mutations in genes encoding proteins that are associated with the skeletal muscle thin filament. Mechanisms underlying muscle weakness are poorly understood, but might involve the length of the thin filament, an important determinant of force generation. METHODS: We investigated the sarcomere length-dependence of force, a functional assay that provides insights into the contractile strength of muscle fibers as well as the length of the thin filaments, in muscle fibers from 51 patients with thin filament myopathy caused by mutations in NEB, ACTA1, TPM2, TPM3, TNNT1, KBTBD13, KLHL40, and KLHL41. RESULTS: Lower force generation was observed in muscle fibers from patients of all genotypes. In a subset of patients who harbor mutations in NEB and ACTA1, the lower force was associated with downward shifted force-sarcomere length relations, indicative of shorter thin filaments. Confocal microscopy confirmed shorter thin filaments in muscle fibers of these patients. A conditional Neb knockout mouse model, which recapitulates thin filament myopathy, revealed a compensatory mechanism; the lower force generation that was associated with shorter thin filaments was compensated for by increasing the number of sarcomeres in series. This allowed muscle fibers to operate at a shorter sarcomere length and maintain optimal thin-thick filament overlap. INTERPRETATION: These findings might provide a novel direction for the development of therapeutic strategies for thin filament myopathy patients with shortened thin filament lengths. Ann Neurol 2016;79:959-969.

Published
2016

44. The Use of Apps for Health in Persons with Multiple Sclerosis, Parkinson's Disease and Stroke -- Barriers and Facilitators.

Author

WINBERG, C., KYLBERG Mª, M., PETTERSSON, C., HARNETT, T., HEDVALL, P.-O., MATTSSON, T., and MÅNSSON LEXELL, E.

Abstract

Introduction: The importance of mobile health has increased during recent years but few studies have described the use of apps among persons with neurological disabilities. Aim: The aim of this paper was to describe how persons ageing with a neurological disability experience barriers and facilitators in relation to using apps in everyday life. Method: A qualitative approach was used. 16 persons with neurological disorders participated in two group discussions. Data were analyzed by content analysis. Results: The analysis formed four categories; Impairments make apps harder to use, Use of apps is increased by learnability and sharing, Valuating the information in an app, and Apps act supportive and motivating. Conclusion: The participants used apps in the same way as persons without disabilities. Impairments and trustworthiness were perceived as barriers, which need to be acknowledged when developing apps for this population. Use of apps was facilitated by the possibility to share data and to connect with others. Apps may have the potential to improve self-management for persons ageing with disabilities but further research is needed. [ABSTRACT FROM AUTHOR]

Published
2017
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50. Increased Bone Mineral Content During Rapid Weight Gain Therapy in Anorexia Nervosa.

Author

Tubić, B., Pettersson, C., Svedlund, A., Bertéus Forslund, H., Magnusson, P., and Swolin-Eide, D.

Subjects
*OSTEOCALCIN, *ANOREXIA nervosa treatment, *DIET therapy, *ENERGY metabolism, *BIOMARKERS, *HUMAN body composition, *ALKALINE phosphatase, *BONE density
Abstract

Patients with anorexia nervosa (AN) are at high risk of reduced bone mass. Osteocalcin (OC), a bone formation marker, has been proposed to act as a link between bone and energy metabolism. We investigated how the 3 forms of OC respond during a 12-week intensive nutrition therapy in AN patients, in whom large changes in energy metabolism are expected. Twenty-two female AN patients, mean 20.9 years of age, with a starting mean body mass index (BMI) 15.5 kg/m² (minimum-maximum) (13.4-17.3 kg/m²) completed the study. Biochemical markers, body composition, bone mass by DXA, and pQCT were assessed. Subjects gained in median 9.9 kg (5.5-17.0 kg), and BMI increased from median 15.4 kg/m² (13.4-17.3 kg/m²) to 19.0 kg/m2 (16.2-20.6 kg/m²), p < 0.0001. Fat mass increased from median 11.4 % (4.4-24.8 %) to 26.7 % (16.9-39.8 %). Total OC, carboxylated OC (cOC), undercarboxylated OC (ucOC), and bone-specific alkaline phosphatase (BALP) increased during the study period. No change was observed for the resorption marker carboxy-terminal cross-linking telopeptide of type I collagen (CTX). Total body bone mineral content (BMC) increased, but no changes were found for whole body or lumbar spine bone mineral density. Tibial trabecular density measured by pQCT decreased. Total OC, cOC, and ucOC were not associated with BMI, insulin or body composition parameters. This prospective study demonstrates that all 3 forms of OC (total OC, cOC, ucOC) increase during rapid weight gain. BALP increased while the resorption marker CTX was unchanged, which corroborate with the increased total body BMC. [ABSTRACT FROM AUTHOR]

Published
2016
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